E82E (p.Glu82Glu) variant of MMAA (Q8IVH4)
E82E (p.Glu82Glu) in MMAA (Q8IVH4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E82E (p.Glu82Glu) variant details
- p.Glu82Glu
- rs750230122
- gnomAD 4-145639385-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.53
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available